PGD conditions licensed by the HFEA
What is this list?
Pre-implantation genetic diagnosis (PGD) is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF for this genetic condition.
Before PGD clinics are permitted to test for a condition or combination of conditions, the HFEA must first agree that the condition they want to test for is sufficiently serious. This list of conditions are those that the HFEA has so far agreed that it is acceptable for clinics to use PGD to test for.
What is an OMIM1 number?
OMIM1 stands for ‘Online Mendelian Inheritance in Man.’ An OMIM number is a way of cataloguing human genes and genetic conditions.
The HFEA, when approving genetic conditions for PGD, asks clinics to provide the relevant OMIM1number for that condition. This ensures that the HFEA, the clinic, and any prospective patients can be clear about the conditions which have been approved for PGD.
Can’t find the condition you are looking for?
If the condition you are looking for does not appear on this list, it may be because the condition is not yet approved or it was approved after this webpage was last updated. We update this page as soon as possible after a new condition is approved.
PGD is an area of medicine that is rapidly developing, and new tests often become available. If a condition does not appear on this list, we recommend getting in touch with a licensed PGD clinic.
| Conditions licensed | OMIM1 number |
|---|---|
| Acute Intermittent Porphyria | 176000 |
| Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM) | 268200 |
| Adrenoleukodystrophy (Adrenomyeloneuropathy) | 300100 |
| Agammaglobulinaemia | 300755 |
| Alpers Syndrome | 203700 |
| α thalassaemia/mental retardation syndrome* | 301040 |
| Alport's Syndrome | 301050 |
| Alzheimers Disease - early onset | 104300 |
| Anderson Fabry Disease | 301500 |
| Androgen Insensitivity Syndrome | 300068 |
| Aplastic anaemia - severe* | - |
| Barth Syndrome | 302060 |
| Battens Disease (infantile) | 204200 |
| Beta Hydroxyisobuyryl CoA Hydrolase Deficiency (Methacryic Aciduria) | 250620 |
| Beta Thalassaemia* | 141900 |
| Bilateral Frontoparietal Polymicrogyria | 606854 |
| Branchio-Oto-Renal Syndrome (BOR) | 113650 |
| BRCA 1 (increased susceptibility to breast cancer) | 113705 |
| Bruton Agammaglobulinemia Tyrosine Kinase | 300300 |
| Cardiac Valvular Dysplasia | 314400 |
| Carney Complex | 160980 / 605224 |
| Central Core Disease of Muscle | 117000 |
| Cerebral Cavernous Malformations (CCM) | 116860 |
| Charcot Marie Tooth Disease | 302800 |
| Chondrodysplasia Punctata | 302950 |
| Choroideraemia | 303100 |
| Chromosomal rearrangements (various) | - |
| Chronic Granulomatous Disease | 306400 |
| Coffin-Lowry Syndrome | 303600 |
| Congenital Adrenal Hyperplasia (21 hydroxylase deficiency) | 201910 |
| Congenital Fibrosis of the Extraocular Muscles | 135700 |
| Congenital Stationary Night Blindness | 310500 |
| Crouzon Syndrome | 123500 |
| Cystic Fibrosis | 219700 |
| Cystinosis | 219800 |
| Diamond Blackfan Anaemia* | 105650 |
| Down's syndrome | 190685 |
| Dystonia 1 Torsion Autosomal Dominant (DYT1) | 128100 |
| Ectodermal dysplasia (Hypohidrotic) | 305100 |
| Facioscapulohumeral Dystrophy | 158900 |
| Familial Adenomatous polyposis coli | 600403 |
| Fanconi's Anaemia A* | 607139 |
| Fanconi's Anaemia C* | 227645 |
| Fragile X Syndrome | 309550 |
| Gaucher's Disease (Type II) | 230900 |
| Gonadal mosaicism | - |
| Greig's Cephalopolysyndactyly | 175700 |
| Haemophilia A | 306700 |
| Haemophilia B | 306900 |
| Hallopeau siemens epidermolysis bullosa (now known as recessive dystrophic epidermolysis bullosa) | various |
| Harlequin ichthyosis | 242500 |
| Hereditary diffuse gastric cancer | 137215 |
| Hereditary motor and sensory neuropathies | 302800 |
| Hereditary multiple exotoses (HME) | 133700 |
| Homozygous Familial Hypercholesterolaemia | 143890 |
| Hunters Syndrome | 309900 |
| Huntington’s Disease | 143100 |
| Hydrocephalus | 307000 |
| Hydroxyisobuyryl CoA Hydrolase Deficiency | 250620 |
| Hyper IgM Syndrome - Hypogammaglobulinaemia* | 300386 |
| Hypophosphatasia (infantile/perinatal lethal) | 241500 |
| Hypophosphatemic Rickets: X-linked dominant (Xlh) | 307800 |
| Hypospadias (severe) | Not recorded |
| Ichthyosis | 308100 |
| Incontinentia Pigmenti | 308300 |
| Juvenile Retinoschisis | 312700 |
| Krabbe Disease | 245200 |
| Leber's hereditary optic neuropathy / Lebers Optic atrophy | 535000 |
| Leigh's (subacute necrotising encephalopathy of childhood) | 516000 / 516002 |
| Lenz syndrome | 309800 |
| Lesch Nyhan Syndrome | 300322 |
| Leukocyte Adhesion Deficiency (Type I)* | 116920 |
| Li-Fraumeni Syndrome | 151623 |
| Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | 609016 |
| Lymphoproliferative Syndrome | 308240 |
| Lynch Syndrome (MLH 2) | 120435 |
| Lynch syndrome (MLH 1) | 609310 |
| Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa) | 312600 |
| Marfan Syndrome | 154700 |
| Medium-chain acyl-Co A dehydrogenase | 231680 |
| MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) | 590050 |
| Menkes Syndrome | 309400 |
| Myoclonic epilepsy and ragged red fibres (MERFF) | 545000 |
| Metachromatic Leukodystrophy | 250100 |
| Multiple Endocrine Neoplasia (Type I) | 131100 |
| Muscular Dystrophy (Beckers) | 300376 |
| Muscular Dystrophy (Duchenne) | 310200 |
| Muscular Dystrophy (Occulopharangeal) | 164300 |
| Myotonic Dystrophy | 160900 |
| Muscle-Eye-Brain Disease | 253280 |
| Myotublar myopathy | 310400/300219 |
| Neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP) | 516060 |
| Neurofibromatosis type I | 162200 |
| Neurofibromatosis type II | 101000 |
| Niemann Pick Disease Type A | 257200 |
| Niemann Pick Disease Type C | 257220 |
| Oculocutaneous Albinism Type 1A | 203100 |
| Oculocutaneous Albinism Type 1B | 606952 |
| Ornithine carbamoyl transferase Deficiency (OTC) | 300461 |
| Ornithine transcarbamylase deficiency (OTD) | 311250 |
| Osteogenesis Imperfecta (Type II) | 120160 |
| Osteogenesis Imperfecta (Type III) | 259420 |
| Ostheopathia Striata with Cranial Sclerosis | 300373 |
| Osteopetrosis, Autosomal Recessive 5 and Osteopetrosis, Infantile Malignant 3 | 259720 |
| Otopalatodigital syndrome (Type 2) | 304120 |
| Paragangliomas 4 (plg 4) | 115310 |
| Partial Lipodystrophy, Familial (Type 2) | 151660 |
| Pelizaeus Merzbacher Disease | 312080/311601 |
| Phenylketonuria (PKU) | 261600 |
| Plakophilin 1 (PKP1) associated ectodermal dysplasia syndrome | 601975 |
| Polycystic kidney disease | 263200 |
| Pompe Disease (early onset) | 232300 |
| Popliteal Pterigum Syndrome | 119500 |
| Prader Willi Syndrome | 176270 |
| Pyrodoxine-dependent seizures | 266100 |
| Recurrent Digynic Triploidy | - |
| Recurrent hydatitiform mole | 231090 |
| Retinitis Pigmentosa | 300455 |
| Retinoblastoma | 180200 |
| Retinoschisis (Juvenile) | 312700 |
| Sandhoff Disease | 268800 |
| Sensorineural deafness - autosomal recessive non-syndromic | 220290 |
| Severe Combined Immune Deficiency (x-linked) | 300400 |
| Sickle Cell Anaemia* | 603903 |
| Smith lemli opitz syndrome | 270400 |
| Spastic paraplegia | - |
| Spinal Muscular Atrophy (SMA1) | 253300 |
| Spinal Muscular Atrophy And Respiratory Distress (SMARD1) | 604320 |
| Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) | 271890 |
| Stuve-Wiedemann Syndrome | 601559 |
| Tay Sachs Disease (infantile onset) | 272800 |
| Torsion Dystonia | 128100 |
| Treacher Collins Syndrome | 154500 |
| Tuberous Sclerosis (TSC2) | 191100 |
| Turner's syndrome (Mosaic) | - |
| Ullrich Muscular Dystrophy | 254090 |
| Von Hippel Lindau Syndrome | 193300 |
| Wiscott-Aldrich Syndrome* | 301000 |
| Wolman's Disease (Acid Lipase Deficiency) | 278000 |
* These conditions have also been licensed for use in cases involving HLA tissue typing. HLA tissue typing tests are licensed on a case-by-case basis, for specific patients.
Conditions awaiting consideration
If a clinic wishes to use PGD to test for a new genetic condition, then it must apply to the HFEA for permission.
See the conditions that the HFEA is considering on whether to allow clinics to use PGD to test for.
1 Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {date of download}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim
Page last updated: 14 February 2013
If a clinic wishes to use Preimplantation genetic diagnosis (PGD) to test for a new genetic condition, then it must apply to the HFEA for permission. 
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